{{Rsnum
|rsid=12948217
|Gene=ASPA
|Chromosome=17
|position=3494408
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.208
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=Canavan disease
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ASPA,SPATA22
}}{{omim
|desc=[[Canavan disease]]
|id=608034
|rsnum=12948217
|variant=0005
}}

According to 23andMe, only the A allele at [[rs12948217]] confers risk to [[Canavan disease]]. A person with the CC, CT, or TT alleles is not a carrier; someone with the AC or AT alleles is a carrier; and people with two AA alleles are affected with the disease.

{{ClinVar
|rsid=12948217
|Reversed=0
|FwdREF=C
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=3397702
|CHROM=17
|GMAF=0.2079
|dbSNPBuildID=121
|SSR=0
|SAO=1
|VP=0x05036800000015051e110100
|GENEINFO=ASPA:443
|GENE_NAME=ASPA
|GENE_ID=443
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.3397702C>A
|CLNSRC=GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000321625; GTR000334180; 608034.0005
|CLNSIG=5
|CLNCUI=C0206307
|CLNDBN=Spongy degeneration of central nervous system
|Disease=Spongy degeneration of central nervous system
|CLNACC=RCV000002727.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.792; 0.208
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1234:C0206307:271900:141:80544005
|COMMON=1
}}

{{PMID Auto
|PMID=18974781
|Title=Cataloging coding sequence variations in human genome databases.
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}